Services Offered

• The diagnosis of dysmorphic syndromes and genetic disorders
• Assistance in the interpretation of genetic test results
• Diagnosis and treatment of inborn errors of metabolism, including those detected in the newborn screening program 
• Enzyme replacement therapy for metabolic conditions
• Genetic counseling of families pertaining to the natural history of these disorders and the risk of recurrence in another family member
• Prenatal genetic counseling

Commonly Treated Conditions

• Abnormal newborn state genetic screening
• Ambiguous genitalia
• Autism
• Birth defects
• Chromosome abnormalities
• Developmental delay
• Down syndrome
• Dysmorphic features
• Family history of birth defects
• Fragile X syndrome
• Genetic disorders (known or suspected)
• Growth abnormalities
• Hearing loss
• Inborn errors of metabolism
• Intrauterine teratogen exposure
• Marfan syndrome
• Mental retardation
• Metabolic abnormalities
• Multiple miscarriage
• Neuromuscular disorders
• Prenatal diagnosis
• Skeletal disorders